A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6434840



Internal ID21092393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109383101..109386100hg38UCSC Ensembl
chr8:110395330..110398329hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18162863
Samples
Known GenesPKHD1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6434840
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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